Ontology highlight
ABSTRACT:
SUBMITTER: Lu TY
PROVIDER: S-EPMC10234305 | biostudies-literature | 2023 Apr
REPOSITORIES: biostudies-literature
Lu Tsung-Yu TY Smaruj Paulina N PN Fudenberg Geoffrey G Mancuso Nicholas N Chaisson Mark J P MJP
Genome research 20230410 4
Understanding the impact of DNA variation on human traits is a fundamental question in human genetics. Variable number tandem repeats (VNTRs) make up ∼3% of the human genome but are often excluded from association analysis owing to poor read mappability or divergent repeat content. Although methods exist to estimate VNTR length from short-read data, it is known that VNTRs vary in both length and repeat (motif) composition. Here, we use a repeat-pangenome graph (RPGG) constructed on 35 haplotype- ...[more]